Variant report

Variant	rs11227750
Chromosome Location	chr11:67015187-67015188
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:67014581-67015222	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67001329..67003402-chr11:67014947..67017604,2	MCF-7	breast:
2	chr11:67014012..67018797-chr11:67139535..67143686,6	MCF-7	breast:
3	chr11:66822165..66825158-chr11:67013591..67015993,3	MCF-7	breast:
4	chr11:66819410..66821529-chr11:67014948..67016472,2	MCF-7	breast:
5	chr11:67014892..67016433-chr11:67139215..67141789,2	MCF-7	breast:

No data

Variant related genes	Relation type
KDM2A	TF binding region
ENSG00000175505	Chromatin interaction
ENSG00000173156	Chromatin interaction
ENSG00000256514	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10896161	1.00[EUR][1000 genomes]
rs10896165	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11227689	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11227690	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11227695	1.00[AMR][1000 genomes]
rs11227696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes]
rs11227701	0.89[AMR][1000 genomes]
rs11227703	1.00[AMR][1000 genomes]
rs11227713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs11227715	1.00[AMR][1000 genomes]
rs11227718	0.87[AMR][1000 genomes]
rs11227720	0.87[AMR][1000 genomes]
rs11227722	0.87[AMR][1000 genomes]
rs11227723	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11227732	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11227740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227742	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227744	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227746	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227755	1.00[JPT][hapmap]
rs11227761	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227765	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11227768	1.00[ASN][1000 genomes]
rs11227770	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11227786	0.81[ASN][1000 genomes]
rs11227787	0.81[ASN][1000 genomes]
rs12223898	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12274774	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12282264	1.00[EUR][1000 genomes]
rs17145414	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs3730145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3892143	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs55936319	1.00[AMR][1000 genomes]
rs56132056	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs58100805	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61395951	1.00[AMR][1000 genomes]
rs61758503	0.87[AMR][1000 genomes]
rs61758508	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889551	0.94[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889552	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891311	0.89[AMR][1000 genomes]
rs61891316	1.00[AMR][1000 genomes]
rs61891317	1.00[AMR][1000 genomes]
rs61891340	0.87[AMR][1000 genomes]
rs61891342	1.00[AMR][1000 genomes]
rs61891343	0.87[AMR][1000 genomes]
rs61891344	1.00[AMR][1000 genomes]
rs61891346	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61891586	0.88[ASN][1000 genomes]
rs61891588	0.88[ASN][1000 genomes]
rs61891589	0.86[ASN][1000 genomes]
rs61891590	0.86[ASN][1000 genomes]
rs61891592	0.83[ASN][1000 genomes]
rs6591234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6591235	0.85[EUR][1000 genomes]
rs7127431	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72926981	1.00[AMR][1000 genomes]
rs7946985	1.00[AMR][1000 genomes]
rs9630209	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv532287	chr11:66784014-67023899	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67009200-67028800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:67009600-67025400	Strong transcription	Fetal Thymus	thymus
3	chr11:67010000-67015400	Strong transcription	NHLF	lung
4	chr11:67010000-67018400	Genic enhancers	Placenta	Placenta
5	chr11:67010000-67020200	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr11:67010000-67025000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:67010000-67026600	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr11:67010200-67018800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:67010200-67024400	Strong transcription	H9 Cell Line	embryonic stem cell
10	chr11:67010200-67024600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:67010200-67025000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:67010200-67025000	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr11:67010200-67025000	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr11:67010200-67025000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr11:67010200-67025400	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr11:67010200-67025400	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr11:67010200-67025800	Strong transcription	Fetal Muscle Trunk	muscle
18	chr11:67010200-67026600	Strong transcription	Fetal Stomach	stomach
19	chr11:67010400-67015200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:67010400-67019000	Strong transcription	Primary hematopoietic stem cells	blood
21	chr11:67010400-67020200	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr11:67010400-67024600	Strong transcription	HUVEC	blood vessel
23	chr11:67010400-67025000	Strong transcription	Fetal Brain Female	brain
24	chr11:67010400-67025000	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr11:67010400-67025000	Strong transcription	Thymus	Thymus
26	chr11:67010400-67025000	Strong transcription	NH-A	brain
27	chr11:67010400-67026200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:67010600-67015200	Strong transcription	HSMM	muscle
29	chr11:67010600-67015400	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr11:67010600-67015400	Strong transcription	HSMMtube	muscle
31	chr11:67010600-67015600	Strong transcription	Skeletal Muscle Male	skeletal muscle
32	chr11:67010600-67015800	Weak transcription	Right Atrium	heart
33	chr11:67010600-67016000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:67010600-67018200	Strong transcription	K562	blood
35	chr11:67010600-67018400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr11:67010600-67019600	Strong transcription	Primary T cells from cord blood	blood
37	chr11:67010600-67020000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr11:67010600-67020000	Strong transcription	Duodenum Mucosa	Duodenum
39	chr11:67010600-67020200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:67010600-67020400	Strong transcription	Fetal Intestine Small	intestine
41	chr11:67010600-67024400	Strong transcription	Psoas Muscle	Psoas
42	chr11:67010600-67024800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:67010600-67025000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
44	chr11:67010600-67025000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr11:67010600-67025000	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr11:67010600-67026400	Strong transcription	Fetal Muscle Leg	muscle
47	chr11:67010600-67026600	Strong transcription	Fetal Intestine Large	intestine
48	chr11:67010800-67016000	Strong transcription	Adipose Nuclei	Adipose
49	chr11:67010800-67018800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:67010800-67018800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain

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